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SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency

From the Department of Pathology (Drs. Moslemi, Åman, and Oldfors), The Queen Silvia Children’s Hospital (Drs. Tulinius and Darin), and Clinical Chemistry (Dr. Holme), Sahlgrenska University Hospital, Göteborg, Sweden.

Address correspondence and reprint requests to Dr. Ali-Reza Moslemi, Department of Pathology, Sahlgrenska University Hospital, S-413 45 Göteborg, Sweden; e-mail: ali-reza.moslemi{at}path.gu.se

Leigh syndrome (LS) is one of the most frequent forms of mitochondrial disease in infancy and childhood. Mutations in SURF1 have been shown to be an important cause of LS with cytochrome c oxidase (COX) deficiency. The authors have identified four pathogenic mutations including a novel, in-frame, 15-bp tandem duplication (806–820) in exon 8 and a novel 751+1G>A splice site mutation in SURF1 in three cases of LS with COX deficiency.

Received May 10, 2002. Accepted in final form June 5, 2003.

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